Arrhythmias & electrophysiologyCohort study
The genetic basis of apparently idiopathic ventricular fibrillation: a retrospective overview
- Retrospective cohort study
- registry-based
Authors' conclusion
Almost all patients from the registry underwent, albeit not broad, genetic testing. The genetic yield of causal LP/P variants in idiopathic VF patients is 5%, increasing to 15% when including DPP6. In specific cases, the LP/P variant is the underlying diagnosis.
Study context
- Population
- Patients with idiopathic ventricular fibrillation (VF) in the Dutch Idiopathic VF Registry379 (91%) genetically tested
- Participants
- 419 patients
- Exposure
- Broad panel testing vs single-gene testing
- Panel testingn = 292
- Single-gene testingn = 87reference
- Outcome
- Results of genetic testing (yield of LP/P variants and VUS)
Main finding
As reported in the abstract
Genetic testing yield
- Causal (likely) pathogenic variants (LP/P)
- n = 56, 15%
- LP/P variants entailing DPP6 risk haplotype
- n = 39, 70%
- LP/P variants in cardiomyopathy genes
- 10
- LP/P variants in arrhythmia genes
- 7
- Change of diagnosis after LP/P variant
- eight patients (2%)
- Variants of uncertain significance (VUS) identified
- 113 patients (30%)
Observational data: associations, not effects.
Further findings
Incidence of VUS by testing type
P < 0.001
Original publication
The genetic basis of apparently idiopathic ventricular fibrillation: a retrospective overview. Europace. Published 15 November 2023. doi:10.1093/europace/euad336
Summarised from the published abstract; every number is checked against it